Carrier, L, Schlossarek, S, Willis, M, Eschenhagen, T :
Ubiquitin-proteasome system nonsense-mediated mRNA decay in hypertrophic cardiomyopathy
Cardiovasc Res, 2010 ; 85 (2) : 330-338
Publications (1181)
Knoblauch, H., Geier, C., Adams, S., Budde, B., Rudolph, A., Zacharias, U., Schulz-Menger, J., Spuler, A., Ben Yaou, R., Nurnberg, P., Voit, T., Bonne, G., Spuler, S. :
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation Ann Neurol, 2010 ; 67 (1) : 136-40
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation Ann Neurol, 2010 ; 67 (1) : 136-40
Schessl, J., Columbus, A., Hu, Y., Zou, Y., Voit, T., Goebel, H. H., Bonnemann, C. G. :
Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1 Neuropediatrics, 2010 ; 41 (1) : 43-6
Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1 Neuropediatrics, 2010 ; 41 (1) : 43-6
Douillard-Guilloux, G., Raben, N., Takikita, S., Ferry, A., Vignaud, A., Guillet-Deniau, I., Favier, M., Thurberg, B. L., Roach, P. J., Caillaud, C., Richard, E. :
Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease Hum Mol Genet, 2010 ; 19 (4) : 684-96
Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease Hum Mol Genet, 2010 ; 19 (4) : 684-96
Lorain, S, Peccate, C, Le Hir, M, Garcia, L :
Exon Exchange Approach to Repair Duchenne Dystrophin Transcripts PLoS ONE, 2010 ; 5 (5) : e10894
Exon Exchange Approach to Repair Duchenne Dystrophin Transcripts PLoS ONE, 2010 ; 5 (5) : e10894
van der Ploeg, A. T., Clemens, P. R., Corzo, D., Escolar, D. M., Florence, J., Groeneveld, G. J., Herson, S., Kishnani, P. S., Laforet, P., Lake, S. L., Lange, D. J., Leshner, R. T., Mayhew, J. E., Morgan, C., Nozaki, K., Park, D. J., Pestronk, A., Rosenbloom, B., Skrinar, A., van Capelle, C. I., van der Beek, N. A., Wasserstein, M., Zivkovic, S. A. :
A randomized study of alglucosidase alfa in late-onset Pompe’s disease N Engl J Med, 2010 ; 362 (15) : 1396-406
A randomized study of alglucosidase alfa in late-onset Pompe’s disease N Engl J Med, 2010 ; 362 (15) : 1396-406
Ben Ammar, A., Petit, F., Alexandri, N., Gaudon, K., Bauche, S., Rouche, A., Gras, D., Fournier, E., Koenig, J., Stojkovic, T., Lacour, A., Petiot, P., Zagnoli, F., Viollet, L., Pellegrini, N., Orlikowski, D., Lazaro, L., Ferrer, X., Stoltenburg, G., Paturneau-Jouas, M., Hentati, F., Fardeau, M., Sternberg, D., Hantai, D., Richard, P., Eymard, B. :
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7 J Neurol, 2010 ; 257 (5) : 754-766
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7 J Neurol, 2010 ; 257 (5) : 754-766
Garcin, B., Lenglet, T., Dubourg, O., Mesnage, V., Levy, R. :
Dropped head syndrome as a presenting sign of scleromyositis J Neurol Sci, 2010 ; 292 (1-2) : 101-103
Dropped head syndrome as a presenting sign of scleromyositis J Neurol Sci, 2010 ; 292 (1-2) : 101-103
Muntoni, F., Voit, T :
The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009 Neuromuscul Disord, 2010 ; 20 (5) : 355-62
The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009 Neuromuscul Disord, 2010 ; 20 (5) : 355-62
Cavalcante, P., Barberis, M., Cannone, M., Baggi, F., Antozzi, C., Maggi, L., Cornelio, F., Barbi, M., Dido, P., Berrih-Aknin, S., Mantegazza, R., Bernasconi, P. :
Detection of poliovirus-infected macrophages in thymus of patients with myasthenia gravis Neurology, 2010 ; 74 (14) : 1118-26
Detection of poliovirus-infected macrophages in thymus of patients with myasthenia gravis Neurology, 2010 ; 74 (14) : 1118-26
